A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1) / 대한산부인과학회잡지

Trisomy 22 is a frequent finding in spontaneous abortion. However, survival to term is tenuous. So far there have been about 85 cases of trisomy 22. Most of all cases, trisomy 22 was result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. These patients have a supernumerary, abnormal chromosome 22 [der(22)], in their chromosome constitution: 47,XX(or XY),+der(22),t(11q;22q). Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We now report a viable case of 47,XX,+der(22)t(11;22)(q25;q13.1) resulting from 3:1 segregation in paternal translocation.